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Article

An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.

American journal of medical genetics. Part A - 15 Aug 2008

Pearson Toni, Curtis Fiona, Al-Eyadhy Ayman, Al-Tamemi Salem, Mazer Bruce, Dror Yigal, Abish Sharon, Bale Sherri, Compton John, Ray Reena, Scott Patrick, Der Kaloustian Vazken M

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Identifiers

PMID: 18627054
DOI: 10.1002/ajmg.a.32412

Genes

DKC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.PMID 18627054Read ↗

DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndromeSemantic proximity Read ↗

De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome.Semantic proximity Read ↗

Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.Semantic proximity Read ↗

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.Semantic proximity Read ↗

Genetics: Hidden intronic mutations in DGKE are causative of aHUS.Semantic proximity Read ↗

KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr).Semantic proximity Read ↗

Synonymous Mutation in DKC1 Causes Telomerase RNA Insufficiency Manifesting as Familial Pulmonary FibrosisSemantic proximity Read ↗

Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.Semantic proximity Read ↗

Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal DefectsSemantic proximity Read ↗

Description of a novel mutation leading to MYH9-related disease.Semantic proximity Read ↗

Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family.Semantic proximity Read ↗

A novel missense mutation (c.221G>C) in RHD gene identified in a Chinese woman.Semantic proximity Read ↗

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